Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
Hart, MR
Biesecker, BB
Blout, CL
Christensen, KD
Amendola, LM
Bergstrom, KL
Biswas, S
Bowling, KM
Brothers, KB
Conlin, LK
Cooper, GM
Dulik, MC
East, KM
Everett, JN
Finnila, CR
Ghazani, AA
Gilmore, MJ
Goddard, KAB
Jarvik, GP
Johnston, JJ
Kauffman, TL
Kelley, WV
Krier, JB
Lewis, KL
McGuire, AL
McMullen, C
Ou, J
Plon, SE
Rehm, HL
Richards, CS
Romasko, EJ
Miren Sagardia, A
Spinner, NB
Thompson, ML
Turbitt, E
Vassy, JL
Wilfond, BS
Veenstra, DL
Berg, JS
Green, RC
Biesecker, LG
Hindorff, LA
- Publication Type:
- Journal Article
- Citation:
- Genetics in Medicine, 2019, 21 (5), pp. 1100 - 1110
- Issue Date:
- 2019-05-01
Closed Access
Filename | Description | Size | |||
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s41436-018-0308-x.pdf | Published Version | 498.45 kB | Adobe PDF |
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Full metadata record
Field | Value | Language |
---|---|---|
dc.contributor.author | Hart, MR | en_US |
dc.contributor.author | Biesecker, BB | en_US |
dc.contributor.author | Blout, CL | en_US |
dc.contributor.author | Christensen, KD | en_US |
dc.contributor.author | Amendola, LM | en_US |
dc.contributor.author | Bergstrom, KL | en_US |
dc.contributor.author | Biswas, S | en_US |
dc.contributor.author | Bowling, KM | en_US |
dc.contributor.author | Brothers, KB | en_US |
dc.contributor.author | Conlin, LK | en_US |
dc.contributor.author | Cooper, GM | en_US |
dc.contributor.author | Dulik, MC | en_US |
dc.contributor.author | East, KM | en_US |
dc.contributor.author | Everett, JN | en_US |
dc.contributor.author | Finnila, CR | en_US |
dc.contributor.author | Ghazani, AA | en_US |
dc.contributor.author | Gilmore, MJ | en_US |
dc.contributor.author | Goddard, KAB | en_US |
dc.contributor.author | Jarvik, GP | en_US |
dc.contributor.author | Johnston, JJ | en_US |
dc.contributor.author | Kauffman, TL | en_US |
dc.contributor.author | Kelley, WV | en_US |
dc.contributor.author | Krier, JB | en_US |
dc.contributor.author | Lewis, KL | en_US |
dc.contributor.author | McGuire, AL | en_US |
dc.contributor.author | McMullen, C | en_US |
dc.contributor.author | Ou, J | en_US |
dc.contributor.author | Plon, SE | en_US |
dc.contributor.author | Rehm, HL | en_US |
dc.contributor.author | Richards, CS | en_US |
dc.contributor.author | Romasko, EJ | en_US |
dc.contributor.author | Miren Sagardia, A | en_US |
dc.contributor.author | Spinner, NB | en_US |
dc.contributor.author | Thompson, ML | en_US |
dc.contributor.author |
Turbitt, E https://orcid.org/0000-0002-6650-9702 |
en_US |
dc.contributor.author | Vassy, JL | en_US |
dc.contributor.author | Wilfond, BS | en_US |
dc.contributor.author | Veenstra, DL | en_US |
dc.contributor.author | Berg, JS | en_US |
dc.contributor.author | Green, RC | en_US |
dc.contributor.author | Biesecker, LG | en_US |
dc.contributor.author | Hindorff, LA | en_US |
dc.date.available | 2018-09-04 | en_US |
dc.date.issued | 2019-05-01 | en_US |
dc.identifier.citation | Genetics in Medicine, 2019, 21 (5), pp. 1100 - 1110 | en_US |
dc.identifier.issn | 1098-3600 | en_US |
dc.identifier.uri | http://hdl.handle.net/10453/136332 | |
dc.description.abstract | © 2018, American College of Medical Genetics and Genomics. Purpose: Clinical sequencing emerging in health care may result in secondary findings (SFs). Methods: Seventy-four of 6240 (1.2%) participants who underwent genome or exome sequencing through the Clinical Sequencing Exploratory Research (CSER) Consortium received one or more SFs from the original American College of Medical Genetics and Genomics (ACMG) recommended 56 gene–condition pair list; we assessed clinical and psychosocial actions. Results: The overall adjusted prevalence of SFs in the ACMG 56 genes across the CSER consortium was 1.7%. Initially 32% of the family histories were positive, and post disclosure, this increased to 48%. The average cost of follow-up medical actions per finding up to a 1-year period was $128 (observed, range: $0–$678) and $421 (recommended, range: $141–$1114). Case reports revealed variability in the frequency of and follow-up on medical recommendations patients received associated with each SF gene–condition pair. Participants did not report adverse psychosocial impact associated with receiving SFs; this was corroborated by 18 participant (or parent) interviews. All interviewed participants shared findings with relatives and reported that relatives did not pursue additional testing or care. Conclusion: Our results suggest that disclosure of SFs shows little to no adverse impact on participants and adds only modestly to near-term health-care costs; additional studies are needed to confirm these findings. | en_US |
dc.relation.ispartof | Genetics in Medicine | en_US |
dc.relation.isbasedon | 10.1038/s41436-018-0308-x | en_US |
dc.subject.classification | Genetics & Heredity | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Incidental Findings | en_US |
dc.subject.mesh | Prevalence | en_US |
dc.subject.mesh | Health Knowledge, Attitudes, Practice | en_US |
dc.subject.mesh | Disclosure | en_US |
dc.subject.mesh | Intention | en_US |
dc.subject.mesh | Decision Making | en_US |
dc.subject.mesh | Genomics | en_US |
dc.subject.mesh | Adult | en_US |
dc.subject.mesh | Health Personnel | en_US |
dc.subject.mesh | Patients | en_US |
dc.subject.mesh | Health Care Costs | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Genetic Testing | en_US |
dc.subject.mesh | High-Throughput Nucleotide Sequencing | en_US |
dc.subject.mesh | Exome | en_US |
dc.subject.mesh | Whole Genome Sequencing | en_US |
dc.title | Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study | en_US |
dc.type | Journal Article | |
utslib.citation.volume | 5 | en_US |
utslib.citation.volume | 21 | en_US |
utslib.for | 0604 Genetics | en_US |
utslib.for | 1103 Clinical Sciences | en_US |
pubs.embargo.period | Not known | en_US |
pubs.organisational-group | /University of Technology Sydney | |
pubs.organisational-group | /University of Technology Sydney/Graduate School of Health | |
utslib.copyright.status | closed_access | |
pubs.issue | 5 | en_US |
pubs.publication-status | Published | en_US |
pubs.volume | 21 | en_US |
Abstract:
© 2018, American College of Medical Genetics and Genomics. Purpose: Clinical sequencing emerging in health care may result in secondary findings (SFs). Methods: Seventy-four of 6240 (1.2%) participants who underwent genome or exome sequencing through the Clinical Sequencing Exploratory Research (CSER) Consortium received one or more SFs from the original American College of Medical Genetics and Genomics (ACMG) recommended 56 gene–condition pair list; we assessed clinical and psychosocial actions. Results: The overall adjusted prevalence of SFs in the ACMG 56 genes across the CSER consortium was 1.7%. Initially 32% of the family histories were positive, and post disclosure, this increased to 48%. The average cost of follow-up medical actions per finding up to a 1-year period was $128 (observed, range: $0–$678) and $421 (recommended, range: $141–$1114). Case reports revealed variability in the frequency of and follow-up on medical recommendations patients received associated with each SF gene–condition pair. Participants did not report adverse psychosocial impact associated with receiving SFs; this was corroborated by 18 participant (or parent) interviews. All interviewed participants shared findings with relatives and reported that relatives did not pursue additional testing or care. Conclusion: Our results suggest that disclosure of SFs shows little to no adverse impact on participants and adds only modestly to near-term health-care costs; additional studies are needed to confirm these findings.
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